Molecular cytogenetic characterization of a 4p15.1-pter duplication and a 4q35.1-qter deletion in a recombinant of chromosome 4 pericentric inversion

2009 ◽  
Vol 149A (2) ◽  
pp. 226-231 ◽  
Author(s):  
M-L. Maurin ◽  
P. Labrune ◽  
S. Brisset ◽  
M. Le Lorc'h ◽  
D. Pineau ◽  
...  
Keyword(s):  
Pericentric Inversion ◽  
Chromosome 4 ◽  
Molecular Cytogenetic ◽  
Cytogenetic Characterization

Molecular cytogenetic characterization of ring chromosome 4 in a female having a chromosomally normal child

2005 ◽  
Vol 111 (2) ◽  
pp. 175-178 ◽  
Author(s):  
M.-H. Lee ◽  
S.-Y. Park ◽  
Y.-M. Kim ◽  
J.-M. Kim ◽  
K.-J. Yoo ◽  
...  
Keyword(s):  
Normal Child ◽  
Ring Chromosome ◽  
Chromosome 4 ◽  
Molecular Cytogenetic ◽  
Cytogenetic Characterization

Intrachromosomal insertion mimicking a pericentric inversion: Molecular cytogenetic characterization of a three break rearrangement of chromosome 20

2005 ◽  
Vol 138A (3) ◽  
pp. 288-293 ◽  
Author(s):  
Azarnouche Ardalan ◽  
Marguerite Prieur ◽  
Agnès Choiset ◽  
Catherine Turleau ◽  
Françoise Goutieres ◽  
...  
Keyword(s):  
Pericentric Inversion ◽  
Molecular Cytogenetic ◽  
Chromosome 20 ◽  
Cytogenetic Characterization

Clinical and molecular cytogenetic characterization of two cases of inverted duplication deletion 8p

2020 ◽  
pp. 41-42
Author(s):  
Д.А. Юрченко ◽  
М.Е. Миньженкова ◽  
Е.Л. Дадали ◽  
Н.В. Шилова
Keyword(s):  
Mental Retardation ◽  
Congenital Heart ◽  
Heart Defects ◽  
Clinical Manifestations ◽  
Formation Mechanisms ◽  
Agenesis Of Corpus Callosum ◽  
Molecular Cytogenetic ◽  
Inverted Duplication ◽  
Cytogenetic Characterization

Синдром инвертированной дупликации короткого плеча хромосомы 8 со смежной терминальной делециенй (inv dup del(8p), ORPHA 96092) - редкая хромосомная аномалия (ХА) с частотой 1/10000-1/30000 живорожденных. В статье представлены клинические и молекулярно-цитогенетические характеристики двух неродственных пациентов с синдромом inv dup del(8p) и уточнены механизмы формирования хромосомного дисбаланса. Inverted duplication deletion 8p syndrome (inv dup del(8p), ORPHA 96092) is a rare chromosomal abnormality with a frequency of 1:10,000 - 30,000 newborns. Clinical manifestations of this syndrome include mental retardation, facial anomalies, hypoplasia/agenesis of corpus callosum, scoliosis and/or kyphosis, hypotonia, congenital heart defects. The article presents the clinical and molecular cytogenetic characteristics of two patients with inv dup del (8p) syndrome and clarifies the formation mechanisms.

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